Linkage analysis of three families with arrythmogenic right ventricular cardiomyopathy in India.

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dc.contributor.authorDokuparthi, Maithili V N
dc.contributor.authorPamuru, Pranathi R
dc.contributor.authorOruganti, Sai S
dc.contributor.authorCalambur, Narsimhan
dc.contributor.authorNallari, Pratibha
dc.date.accessioned2012-06-07T09:54:57Z
dc.date.available2012-06-07T09:54:57Z
dc.date.issued2009-05
dc.description.abstractBACKGROUND: Arrythmogenic Right Ventricular Cardiomyopathy (ARVC) is a primary myocardial disorder morphologically characterized by subtle to severe replacement of the right ventricular myocardium by fatty and fibrous tissue. ARVC is known to be highly prevalent in European population with recent reports implicating it to be a major cause of sudden death in young individuals even from American and Asian population. AIM: To implicate or exclude TMEM43 (ARVC-5), DSP(ARVC-8) genes and the yet to be identified gene at ARVC-6 locus in the pathogenesis in three families affected with ARVC from India. MATERIALS AND METHODS: Three families comprising of 42 affected/unaffected members were included in the study. Three microsatellite markers, D3S3613 (ARVC5) D10S1664 (ARVC6), D6S309 (ARVC8) were genotyped by PCR-based native PAGE. Two-point Linkage analysis was performed using LINKAGE program version 5.2 RESULTS AND DISCUSSION: LOD scores from linkage analysis for the microsatellite marker D10S1664 (ARVC-6) in families KS and REV have shown positive value hinting the involvement of this locus in the etiology of ARVC, while linkage analysis in the SB family ruled out involvement of DSP, TMEM43 and ARVC-6, as negative LOD scores were obtained with all three loci. Therefore, linkage analysis carried out in the present study indicates that ARVC-6 (cumulative LOD score is equal to plus 1.203376 at θ is equal to 0.05) could be the locus harboring the mutated gene in two out of three families.en_US
dc.identifier.citationDokuparthi Maithili V N, Pamuru Pranathi R, Oruganti Sai S, Calambur Narsimhan, Nallari Pratibha. Linkage analysis of three families with arrythmogenic right ventricular cardiomyopathy in India. Indian Journal of Human Genetics. 2009 May; 15(2): 54-59.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/138871
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2910949/en_US
dc.subjectArrythmogenic right ventricular cardiomyopathyen_US
dc.subjectlinkage analysisen_US
dc.subjectLODen_US
dc.subjectsudden deathen_US
dc.subject.meshAdult
dc.subject.meshArrhythmogenic Right Ventricular Dysplasia --diagnosis
dc.subject.meshArrhythmogenic Right Ventricular Dysplasia --etiology
dc.subject.meshArrhythmogenic Right Ventricular Dysplasia --genetics
dc.subject.meshChild
dc.subject.meshDeath, Sudden, Cardiac --epidemiology
dc.subject.meshDeath, Sudden, Cardiac --etiology
dc.subject.meshFamily
dc.subject.meshFemale
dc.subject.meshGenetic Linkage --genetics
dc.subject.meshHumans
dc.subject.meshIndia --epidemiology
dc.subject.meshLod Score
dc.subject.meshMale
dc.subject.meshMicrosatellite Repeats
dc.subject.meshMutagenesis, Insertional --genetics
dc.subject.meshPolymerase Chain Reaction --methods
dc.titleLinkage analysis of three families with arrythmogenic right ventricular cardiomyopathy in India.en_US
dc.typeArticleen_US
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